S85N (p.Ser85Asn) variant of REEP1 (Q9H902)
S85N (p.Ser85Asn) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S85N (p.Ser85Asn) variant details
- p.Ser85Asn
- ExAC rs770142567
- gnomAD rs770142567
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.73
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available